Nos1ap nitric oxide synthase 1 (neuronal) adaptor protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nos1approvided by MGI
Official Full Name: nitric oxide synthase 1 (neuronal) adaptor proteinprovided by MGI
Primary source: MGI:MGI:1917979
See related: Ensembl:ENSMUSG00000038473 AllianceGenome:MGI:1917979
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Capon; 6330408P19Rik
Summary: Enables nitric-oxide synthase binding activity. Predicted to be involved in several processes, including positive regulation of peptidyl-cysteine S-nitrosylation; postsynaptic actin cytoskeleton organization; and regulation of ion transmembrane transport. Located in Z disc; mitochondrion; and sarcoplasmic reticulum membrane. Colocalizes with T-tubule and caveola. Is expressed in several structures, including brain; gallbladder; spinal cord; trachea; and urinary system. Human ortholog(s) of this gene implicated in nephrotic syndrome type 22. Orthologous to human NOS1AP (nitric oxide synthase 1 adaptor protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in bladder adult (RPKM 24.0), cortex adult (RPKM 18.0) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H3; 1 76.84 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (170143039..170417371, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (170315467..170589849, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cardiac muscle-restricted partial loss of Nos1ap expression has limited but significant impact on electrocardiographic features.
Title: Cardiac muscle-restricted partial loss of Nos1ap expression has limited but significant impact on electrocardiographic features.
Disrupting the nNOS/NOS1AP interaction in the medial prefrontal cortex impairs social recognition and spatial working memory in mice.
Title: Disrupting the nNOS/NOS1AP interaction in the medial prefrontal cortex impairs social recognition and spatial working memory in mice.
Inducible over-expression of cardiac Nos1ap causes short QT syndrome in transgenic mice.
Title: Inducible over-expression of cardiac Nos1ap causes short QT syndrome in transgenic mice.
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
Title: Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
Hippocampal overexpression of NOS1AP promotes endophenotypes related to mental disorders.
Title: Hippocampal overexpression of NOS1AP promotes endophenotypes related to mental disorders.
CAPON Is a Critical Protein in Synaptic Molecular Networks in the Prefrontal Cortex of Mood Disorder Patients and Contributes to Depression-Like Behavior in a Mouse Model.
Title: CAPON Is a Critical Protein in Synaptic Molecular Networks in the Prefrontal Cortex of Mood Disorder Patients and Contributes to Depression-Like Behavior in a Mouse Model.
nNOS-CAPON interaction may function via regulating structural neuroplasticity, rather than neuroprotection
Title: Dissociating nNOS (Neuronal NO Synthase)-CAPON (Carboxy-Terminal Postsynaptic Density-95/Discs Large/Zona Occludens-1 Ligand of nNOS) Interaction Promotes Functional Recovery After Stroke via Enhanced Structural Neuroplasticity.
In models of Alzheimer's disease, increased nNOS-CAPON interaction was detected after treatment with amyloid-beta in vitro, and a similar change was found in the hippocampus of APP/PS1 mice (a transgenic mouse model of Alzheimer's disease), compared with age-matched background mice in vivo.
Title: nNOS-CAPON interaction mediates amyloid-β-induced neurotoxicity, especially in the early stages.
CAPON accumulated in the hippocampal pyramidal cell layer in the App(NL-G-F) -knock-in (KI) brain. In a model of Alzheimer's disease, CAPON overexpression produced significant hippocampal atrophy and caspase3-dependent neuronal cell death in the CAPON-expressing hippocampus, suggesting that CAPON accumulation increases neurodegeneration.
Title: Tau binding protein CAPON induces tau aggregation and neurodegeneration.
results hint towards an involvement of NOS-I/NOS1AP interaction in the regulation of dendritic spine plasticity
Title: Interaction of NOS1AP with the NOS-I PDZ domain: Implications for schizophrenia-related alterations in dendritic morphology.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1Mit205 (e-PCR), detects polymorphism
- UniSTS:128545

D1Mit455 (e-PCR), detects polymorphism
- UniSTS:128825

D1Mit473 (e-PCR), detects polymorphism
- UniSTS:142249

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
enables mitogen-activated protein kinase kinase binding	ISO Inferred from Sequence Orthology more info
enables nitric-oxide synthase binding	IBA Inferred from Biological aspect of Ancestor more info
enables nitric-oxide synthase binding	IPI Inferred from Physical Interaction more info	PubMed
enables nitric-oxide synthase binding	ISO Inferred from Sequence Orthology more info
enables protease binding	ISO Inferred from Sequence Orthology more info
enables signaling adaptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in postsynaptic actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in regulation of heart rate by chemical signal	ISO Inferred from Sequence Orthology more info
involved_in regulation of ventricular cardiac muscle cell membrane repolarization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
colocalizes_with T-tubule	IDA Inferred from Direct Assay more info	PubMed
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
colocalizes_with caveola	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info
is_active_in presynapse	ISO Inferred from Sequence Orthology more info
located_in sarcoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein

Names: C-terminal PDZ domain ligand of neuronal nitric oxide synthase; C-terminal PDZ ligand of neuronal nitric oxide synthase protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001109985.3 → NP_001103455.1 carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 1

See identical proteins and their annotated locations for NP_001103455.1

Status: VALIDATED

Source sequence(s)

AC119431, AC125017, AC125021

Consensus CDS

CCDS48438.1

UniProtKB/Swiss-Prot

E9Q7B9, Q80TZ6, Q9D3A8

Related

ENSMUSP00000125251.2, ENSMUST00000160456.8

Conserved Domains (1) summary

cd01270
Location:2 → 180

PTB_CAPON-like; Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein (CAPON) Phosphotyrosine-binding (PTB) domain

RNA

NR_154593.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC119431, AC125017

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

170143039..170417371 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_027528.2: Suppressed sequence

Description

NM_027528.2: This RefSeq was removed because it is thought to be partial and there is insufficient support for the protein.